{ "metadata": { "namedAlleleMatcherVersion": "1.0.0", "genomeBuild": "GRCh38.p13", "inputFilename": "pharmcat.vcf", "timestamp": "Aug 14, 2025, 1:14:32 PM" }, "results": [ { "alleleDefinitionVersion": "05/05/22", "chromosome": "chr4", "gene": "ABCG2", "diplotypes": [ { "name": "rs2231142 reference (G)/rs2231142 reference (G)", "haplotype1": { "name": "rs2231142 reference (G)", "sequences": [ "88131171:G;" ] }, "haplotype2": { "name": "rs2231142 reference (G)", "sequences": [ "88131171:G;" ] }, "score": 2 } ], "haplotypes": [ { "name": "rs2231142 reference (G)", "sequences": [ "88131171:G;" ] } ], "phased": true, "variants": [ { "position": 88131171, "rsid": "rs2231142", "vcfCall": "G|G" } ], "variantsOfInterest": [], "matchData": { "missingPositions": [], "mismatchedAlleles": [] }, "uncallableHaplotypes": [], "ignoredHaplotypes": [] }, { "alleleDefinitionVersion": "05/05/22", "chromosome": "chr7", "gene": "CFTR", "diplotypes": [ { "name": "ivacaftor non-responsive CFTR 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"94761900:C;94762706:A;94762712:C;94762715:T;94762755:T;94762760:A;94762788:A;94762856:A;94775106:C;94775121:C;94775160:G;94775185:A;94775367:G;94775416:T;94775423:A;94775453:G;94775489:G;94775507:G;94780574:G;94780579:G;94780653:G;94781858:C;94781859:A;94781944:G;94781999:T;94842861:G;94842866:G;94842879:G;94842995:G;94849995:C;94852738:C;94852765:C;94852785:C;94852914:A;" ] }, "score": 38 } ], "haplotypes": [ { "name": "*1", "sequences": [ "94761900:C;94762706:A;94762712:C;94762715:T;94762755:T;94762760:A;94762788:A;94762856:A;94775106:C;94775121:C;94775160:G;94775185:A;94775367:A;94775416:T;94775423:A;94775453:G;94775489:G;94775507:G;94780574:G;94780579:G;94780653:G;94781858:C;94781859:G;94781944:G;94781999:T;94842861:G;94842866:G;94842879:G;94842995:G;94849995:C;94852738:C;94852765:C;94852785:C;94852914:A;" ] }, { "name": "*2", "sequences": [ 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"vcfCall": "G|G" }, { "position": 94781999, "rsid": "rs72558186", "vcfCall": "T|T" }, { "position": 94842861, "rsid": "rs138142612", "vcfCall": "G|G" }, { "position": 94842866, "rsid": "rs3758581", "vcfCall": "G|G" }, { "position": 94842879, "rsid": "rs118203757", "vcfCall": "G|G" }, { "position": 94842995, "rsid": "rs113934938", "vcfCall": "G|G" }, { "position": 94849995, "rsid": "rs17879685", "vcfCall": "C|C" }, { "position": 94852738, "rsid": "rs56337013", "vcfCall": "C|C" }, { "position": 94852765, "rsid": "rs192154563", "vcfCall": "C|C" }, { "position": 94852785, "rsid": "rs118203759", "vcfCall": "C|C" }, { "position": 94852914, "rsid": "rs55640102", "vcfCall": "A|A" } ], "variantsOfInterest": [], "matchData": { "missingPositions": [], "mismatchedAlleles": [] }, "uncallableHaplotypes": [], "ignoredHaplotypes": [] }, { "alleleDefinitionVersion": "08/05/22", "chromosome": "chr10", "gene": "CYP2C8", "diplotypes": [], "haplotypes": [], "phased": false, "variants": [ { "position": 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95058424, "rsid": "rs11572102", "vcfCall": "T|T" }, { "position": 95058442, "rsid": "rs188934928", "vcfCall": "C|C" }, { "position": 95058485, "rsid": "c.459T\u003eG", "vcfCall": "A|A" }, { "position": 95064886, "rsid": "rs72558195", "vcfCall": "G|G" }, { "position": 95064901, "rsid": "rs41286886", "vcfCall": "C|C" }, { "position": 95064931, "rsid": "rs142886225", "vcfCall": "C|C" }, { "position": 95067209, "rsid": "rs11572081", "vcfCall": "C|C" }, { "position": 95067213, "rsid": "rs72558196", "vcfCall": "GT|GT" }, { "position": 95067273, "rsid": "rs11572080", "vcfCall": "C|C" }, { "position": 95069408, "rsid": "rs142144821", "vcfCall": "C|C" }, { "position": 95069488, "rsid": "rs11572066", "vcfCall": "T|T" }, { "position": 95069524, "rsid": "rs547978262", "vcfCall": "T|T" }, { "position": 95069535, "rsid": "rs78041161", "vcfCall": "T|T" }, { "position": 95069649, "rsid": "rs11572065", "vcfCall": "A|A" }, { "position": 95069673, "rsid": "rs7909236", "vcfCall": "G|G" }, { "position": 95069772, "rsid": "rs17110453", "vcfCall": "A|A" }, { "position": 95069813, "rsid": "rs7912549", "vcfCall": "G|G" } ], "variantsOfInterest": [], "matchData": { "missingPositions": [], "mismatchedAlleles": [] }, "uncallableHaplotypes": [], "ignoredHaplotypes": [] }, { "alleleDefinitionVersion": "05/05/22", "chromosome": "chr10", "gene": "CYP2C9", "diplotypes": [ { "name": "*1/*2", "haplotype1": { "name": "*1", "sequences": [ "94938683:A;94938719:T;94938737:C;94938771:C;94938788:C;94938800:G;94938803:A;94938828:A;94941897:G;94941915:G;94941958:T;94941975:G;94941976:G;94941982:G;94942018:T;94942205:CAATGGAAAGA;94942216:A;94942230:C;94942231:G;94942233:C;94942234:G;94942243:T;94942249:C;94942254:C;94942255:G;94942290:C;94942291:G;94942305:G;94942306:C;94942308:C;94942309:G;94947782:C;94947785:C;94947869:A;94947907:A;94947917:T;94947938:A;94947939:G;94949129:A;94949144:C;94949145:C;94949161:AT;94949217:A;94949280:A;94949281:GA;94972119:C;94972123:C;94972134:A;94972179:A;94972180:C;94972183:A;94972233:C;94981199:G;94981201:T;94981224:C;94981225:G;94981230:C;94981250:C;94981258:C;94981281:G;94981296:A;94981297:T;94981301:C;94981302:C;94981305:C;94981365:C;94981371:G;94986042:A;94986073:A;94986136:A;94986174:G;94988852:C;94988855:A;94988880:G;94988917:G;94988925:A;94988955:T;94988984:G;94989020:C;94989023:G;" ] }, "haplotype2": { "name": "*2", "sequences": [ "94938683:A;94938719:T;94938737:C;94938771:C;94938788:C;94938800:G;94938803:A;94938828:A;94941897:G;94941915:G;94941958:T;94941975:G;94941976:G;94941982:G;94942018:T;94942205:CAATGGAAAGA;94942216:A;94942230:C;94942231:G;94942233:C;94942234:G;94942243:T;94942249:C;94942254:C;94942255:G;94942290:T;94942291:G;94942305:G;94942306:C;94942308:C;94942309:G;94947782:C;94947785:C;94947869:A;94947907:A;94947917:T;94947938:A;94947939:G;94949129:A;94949144:C;94949145:C;94949161:AT;94949217:A;94949280:A;94949281:GA;94972119:C;94972123:C;94972134:A;94972179:A;94972180:C;94972183:A;94972233:C;94981199:G;94981201:T;94981224:C;94981225:G;94981230:C;94981250:C;94981258:C;94981281:G;94981296:A;94981297:T;94981301:C;94981302:C;94981305:C;94981365:C;94981371:G;94986042:A;94986073:A;94986136:A;94986174:G;94988852:C;94988855:A;94988880:G;94988917:G;94988925:A;94988955:T;94988984:G;94989020:C;94989023:G;" ] }, "score": 81 } ], "haplotypes": [ { "name": "*1", "sequences": [ "94938683:A;94938719:T;94938737:C;94938771:C;94938788:C;94938800:G;94938803:A;94938828:A;94941897:G;94941915:G;94941958:T;94941975:G;94941976:G;94941982:G;94942018:T;94942205:CAATGGAAAGA;94942216:A;94942230:C;94942231:G;94942233:C;94942234:G;94942243:T;94942249:C;94942254:C;94942255:G;94942290:C;94942291:G;94942305:G;94942306:C;94942308:C;94942309:G;94947782:C;94947785:C;94947869:A;94947907:A;94947917:T;94947938:A;94947939:G;94949129:A;94949144:C;94949145:C;94949161:AT;94949217:A;94949280:A;94949281:GA;94972119:C;94972123:C;94972134:A;94972179:A;94972180:C;94972183:A;94972233:C;94981199:G;94981201:T;94981224:C;94981225:G;94981230:C;94981250:C;94981258:C;94981281:G;94981296:A;94981297:T;94981301:C;94981302:C;94981305:C;94981365:C;94981371:G;94986042:A;94986073:A;94986136:A;94986174:G;94988852:C;94988855:A;94988880:G;94988917:G;94988925:A;94988955:T;94988984:G;94989020:C;94989023:G;" ] }, { "name": "*2", "sequences": [ "94938683:A;94938719:T;94938737:C;94938771:C;94938788:C;94938800:G;94938803:A;94938828:A;94941897:G;94941915:G;94941958:T;94941975:G;94941976:G;94941982:G;94942018:T;94942205:CAATGGAAAGA;94942216:A;94942230:C;94942231:G;94942233:C;94942234:G;94942243:T;94942249:C;94942254:C;94942255:G;94942290:T;94942291:G;94942305:G;94942306:C;94942308:C;94942309:G;94947782:C;94947785:C;94947869:A;94947907:A;94947917:T;94947938:A;94947939:G;94949129:A;94949144:C;94949145:C;94949161:AT;94949217:A;94949280:A;94949281:GA;94972119:C;94972123:C;94972134:A;94972179:A;94972180:C;94972183:A;94972233:C;94981199:G;94981201:T;94981224:C;94981225:G;94981230:C;94981250:C;94981258:C;94981281:G;94981296:A;94981297:T;94981301:C;94981302:C;94981305:C;94981365:C;94981371:G;94986042:A;94986073:A;94986136:A;94986174:G;94988852:C;94988855:A;94988880:G;94988917:G;94988925:A;94988955:T;94988984:G;94989020:C;94989023:G;" ] } ], "phased": false, "variants": [ { "position": 94938683, "rsid": "rs114071557", "vcfCall": "A|A" }, { "position": 94938719, "rsid": null, "vcfCall": "T|T" }, { "position": 94938737, "rsid": "rs67807361", "vcfCall": "C|C" }, { "position": 94938771, "rsid": "rs142240658", "vcfCall": "C|C" }, { "position": 94938788, "rsid": null, "vcfCall": "C|C" }, { "position": 94938800, "rsid": "rs1364419386", "vcfCall": "G|G" }, { "position": 94938803, "rsid": "rs2031308986", "vcfCall": "A|A" }, { "position": 94938828, "rsid": "rs564813580", "vcfCall": "A|A" }, { "position": 94941897, "rsid": "rs371055887", "vcfCall": "G|G" }, { "position": 94941915, "rsid": null, "vcfCall": "G|G" }, { "position": 94941958, "rsid": "rs72558187", "vcfCall": "T|T" }, { "position": 94941975, "rsid": null, "vcfCall": "G|G" }, { "position": 94941976, "rsid": null, "vcfCall": "G|G" }, { "position": 94941982, "rsid": "rs762239445", "vcfCall": "G|G" }, { "position": 94942018, "rsid": null, "vcfCall": "T|T" }, { "position": 94942205, "rsid": "rs1304490498", "vcfCall": "CAATGGAAAGA|CAATGGAAAGA" }, { "position": 94942216, 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"rsid": "rs1799930", "vcfCall": "G|G" }, { "position": 18400603, "rsid": "rs72466461", "vcfCall": "A|A" }, { "position": 18400612, "rsid": "rs45618543", "vcfCall": "G|G" }, { "position": 18400625, "rsid": "rs56387565", "vcfCall": "T|T" }, { "position": 18400636, "rsid": "633G\u003eA", "vcfCall": "G|G" }, { "position": 18400641, "rsid": "rs138707146", "vcfCall": "C|C" }, { "position": 18400668, "rsid": "665T\u003eG", "vcfCall": "T|T" }, { "position": 18400686, "rsid": "rs45518335", "vcfCall": "C|C" }, { "position": 18400762, "rsid": "rs56011192", "vcfCall": "C|C" }, { "position": 18400769, "rsid": "rs55700793", "vcfCall": "A|A" }, { "position": 18400806, "rsid": "rs1208", "vcfCall": "G/A" }, { "position": 18400841, "rsid": "rs56393504 ", "vcfCall": "G|G" }, { "position": 18400848, "rsid": "rs56054745", "vcfCall": "A|A" }, { "position": 18400860, "rsid": "rs1799931", "vcfCall": "G|G" }, { "position": 18400861, "rsid": "859Del", "vcfCall": "AT|AT" } ], "variantsOfInterest": [], "matchData": { "missingPositions": [], "mismatchedAlleles": [] }, "uncallableHaplotypes": [], "ignoredHaplotypes": [] }, { "alleleDefinitionVersion": "05/05/22", "chromosome": "chr13", "gene": "NUDT15", "diplotypes": [ { "name": "*1/*1", "haplotype1": { "name": "*1", "sequences": [ "48037748:T;48037749:G;48037782:AGGAGTC;48037798:G;48037825:C;48037834:C;48037847:G;48037849:A;48037885:G;48037902:C;48040977:GA;48041103:T;48041113:G;48045690:C;48045719:C;48045720:G;48045771:T;" ] }, "haplotype2": { "name": "*1", "sequences": [ "48037748:T;48037749:G;48037782:AGGAGTC;48037798:G;48037825:C;48037834:C;48037847:G;48037849:A;48037885:G;48037902:C;48040977:GA;48041103:T;48041113:G;48045690:C;48045719:C;48045720:G;48045771:T;" ] }, "score": 34 } ], "haplotypes": [ { "name": "*1", "sequences": [ "48037748:T;48037749:G;48037782:AGGAGTC;48037798:G;48037825:C;48037834:C;48037847:G;48037849:A;48037885:G;48037902:C;48040977:GA;48041103:T;48041113:G;48045690:C;48045719:C;48045720:G;48045771:T;" ] } ], "phased": true, "variants": [ { "position": 48037748, "rsid": "rs769369441", "vcfCall": "T|T" }, { "position": 48037749, "rsid": null, "vcfCall": "G|G" }, { "position": 48037782, "rsid": "rs746071566", "vcfCall": "AGGAGTC|AGGAGTC" }, { "position": 48037798, "rsid": "rs186364861", "vcfCall": "G|G" }, { "position": 48037825, "rsid": "rs777311140", "vcfCall": "C|C" }, { "position": 48037834, "rsid": "rs1202487323", "vcfCall": "C|C" }, { "position": 48037847, "rsid": "rs766023281", "vcfCall": "G|G" }, { "position": 48037849, "rsid": null, "vcfCall": "A|A" }, { "position": 48037885, "rsid": "rs1950545307", "vcfCall": "G|G" }, { "position": 48037902, "rsid": "rs149436418", "vcfCall": "C|C" }, { "position": 48040977, "rsid": "rs1457579126", "vcfCall": "GA|GA" }, { "position": 48041103, "rsid": "rs761191455", "vcfCall": "T|T" }, { "position": 48041113, "rsid": "rs1368252918", "vcfCall": "G|G" }, { "position": 48045690, "rsid": "rs768324690", "vcfCall": "C|C" }, { "position": 48045719, "rsid": "rs116855232", "vcfCall": "C|C" }, { "position": 48045720, "rsid": "rs147390019", "vcfCall": "G|G" }, { "position": 48045771, "rsid": "rs139551410", "vcfCall": "T|T" } ], "variantsOfInterest": [], "matchData": { "missingPositions": [], "mismatchedAlleles": [] }, "uncallableHaplotypes": [], "ignoredHaplotypes": [] }, { "alleleDefinitionVersion": "05/05/22", "chromosome": "chr19", "gene": "RYR1", "diplotypes": [ { "name": "Reference/Reference", "haplotype1": { "name": "Reference", "sequences": [ "38440802:T;38440829:C;38444211:C;38444212:G;38446710:G;38448673:C;38448712:G;38451842:C;38451850:C;38455359:A;38455463:G;38455471:C;38455472:G;38455528:C;38457545:C;38457546:G;38494564:C;38494565:G;38494579:G;38496283:C;38499223:G;38499644:TGGA;38499655:G;38499670:C;38499731:G;38499975:G;38499993:G;38499997:G;38500636:C;38500642:C;38500643:G;38500654:C;38500655:G;38500898:C;38500899:G;38512321:G;38543832:G;38580004:A;38580094:C;38580114:C;38580370:C;38580403:G;38580440:G;38584989:T;" ] }, "haplotype2": { "name": "Reference", "sequences": [ "38440802:T;38440829:C;38444211:C;38444212:G;38446710:G;38448673:C;38448712:G;38451842:C;38451850:C;38455359:A;38455463:G;38455471:C;38455472:G;38455528:C;38457545:C;38457546:G;38494564:C;38494565:G;38494579:G;38496283:C;38499223:G;38499644:TGGA;38499655:G;38499670:C;38499731:G;38499975:G;38499993:G;38499997:G;38500636:C;38500642:C;38500643:G;38500654:C;38500655:G;38500898:C;38500899:G;38512321:G;38543832:G;38580004:A;38580094:C;38580114:C;38580370:C;38580403:G;38580440:G;38584989:T;" ] }, "score": 88 } ], "haplotypes": [ { "name": "Reference", "sequences": [ "38440802:T;38440829:C;38444211:C;38444212:G;38446710:G;38448673:C;38448712:G;38451842:C;38451850:C;38455359:A;38455463:G;38455471:C;38455472:G;38455528:C;38457545:C;38457546:G;38494564:C;38494565:G;38494579:G;38496283:C;38499223:G;38499644:TGGA;38499655:G;38499670:C;38499731:G;38499975:G;38499993:G;38499997:G;38500636:C;38500642:C;38500643:G;38500654:C;38500655:G;38500898:C;38500899:G;38512321:G;38543832:G;38580004:A;38580094:C;38580114:C;38580370:C;38580403:G;38580440:G;38584989:T;" ] } ], "phased": true, "variants": [ { "position": 38440802, "rsid": "rs193922747", "vcfCall": "T|T" }, { "position": 38440829, "rsid": "rs193922748", "vcfCall": "C|C" }, { "position": 38444211, "rsid": "rs118192161", "vcfCall": "C|C" }, { "position": 38444212, "rsid": "rs193922753", "vcfCall": "G|G" }, { "position": 38446710, "rsid": "rs1801086", "vcfCall": "G|G" }, { "position": 38448673, "rsid": "rs193922762", "vcfCall": "C|C" }, { "position": 38448712, "rsid": "rs121918592", "vcfCall": "G|G" }, { "position": 38451842, "rsid": "rs193922764", "vcfCall": "C|C" }, { "position": 38451850, "rsid": "rs118192116", "vcfCall": "C|C" }, { "position": 38455359, "rsid": "rs118192162", "vcfCall": "A|A" }, { "position": 38455463, "rsid": "rs111888148", "vcfCall": "G|G" }, { "position": 38455471, "rsid": "rs193922768", "vcfCall": "C|C" }, { "position": 38455472, "rsid": "rs144336148", "vcfCall": "G|G" }, { "position": 38455528, "rsid": "rs193922770", "vcfCall": "C|C" }, { "position": 38457545, "rsid": "rs118192172", "vcfCall": "C|C" }, { "position": 38457546, "rsid": "rs193922772", "vcfCall": "G|G" }, { "position": 38494564, "rsid": "rs118192175", "vcfCall": "C|C" }, { "position": 38494565, "rsid": "rs118192163", "vcfCall": "G|G" }, { "position": 38494579, "rsid": "rs118192176", "vcfCall": "G|G" }, { "position": 38496283, "rsid": "rs118192177", "vcfCall": "C|C" }, { "position": 38499223, "rsid": "rs112563513", "vcfCall": "G|G" }, { "position": 38499644, "rsid": "rs121918596", "vcfCall": "TGGA|TGGA" }, { "position": 38499655, "rsid": "rs193922802", "vcfCall": "G|G" }, { "position": 38499670, "rsid": "rs193922803", "vcfCall": "C|C" }, { "position": 38499731, "rsid": "rs193922807", "vcfCall": "G|G" }, { "position": 38499975, "rsid": "rs193922809", "vcfCall": "G|G" }, { "position": 38499993, "rsid": "rs121918593", "vcfCall": "G|G" }, { "position": 38499997, "rsid": "rs28933396", "vcfCall": "G|G" }, { "position": 38500636, "rsid": "rs118192124", "vcfCall": "C|C" }, { "position": 38500642, "rsid": "rs193922816", "vcfCall": "C|C" }, { "position": 38500643, "rsid": "rs118192122", "vcfCall": "G|G" }, { "position": 38500654, "rsid": "rs28933397", "vcfCall": "C|C" }, { "position": 38500655, "rsid": "rs121918594", "vcfCall": "G|G" }, { "position": 38500898, "rsid": "rs118192178", "vcfCall": "C|C" }, { "position": 38500899, "rsid": "rs193922818", "vcfCall": "G|G" }, { "position": 38512321, "rsid": "rs193922832", "vcfCall": "G|G" }, { "position": 38543832, "rsid": "rs193922843", "vcfCall": "G|G" }, { "position": 38580004, "rsid": "rs118192167", "vcfCall": "A|A" }, { "position": 38580094, "rsid": "rs121918595", "vcfCall": "C|C" }, { "position": 38580114, "rsid": "rs193922876", "vcfCall": "C|C" }, { "position": 38580370, "rsid": "rs193922878", "vcfCall": "C|C" }, { "position": 38580403, "rsid": "rs118192168", "vcfCall": "G|G" }, { "position": 38580440, "rsid": "rs63749869", "vcfCall": "G|G" }, { "position": 38584989, "rsid": "rs118192170", "vcfCall": "T|T" } ], "variantsOfInterest": [], "matchData": { "missingPositions": [], "mismatchedAlleles": [] }, "uncallableHaplotypes": [], "ignoredHaplotypes": [] }, { "alleleDefinitionVersion": "05/05/22", "chromosome": "chr12", "gene": "SLCO1B1", "diplotypes": [ { "name": "*1/*5", "haplotype1": { "name": "*1", "sequences": [ "21172734:C;21172776:G;21172782:T;21174595:T;21176804:A;21176868:A;21176871:G;21176879:C;21176883:A;21176898:G;21178612:A;21178615:T;21178957:A;21196951:A;21196975:C;21196976:G;21200544:C;21200595:T;21202553:T;21202555:C;21202649:A;21202664:G;21205921:A;21205999:G;21206031:A;21222355:C;21239042:A;21239077:A;21239113:A;21239145:C;21239158:C;" ] }, "haplotype2": { "name": "*5", "sequences": [ "21172734:C;21172776:G;21172782:T;21174595:T;21176804:A;21176868:A;21176871:G;21176879:C;21176883:A;21176898:G;21178612:A;21178615:C;21178957:A;21196951:A;21196975:C;21196976:G;21200544:C;21200595:T;21202553:T;21202555:C;21202649:A;21202664:G;21205921:A;21205999:G;21206031:A;21222355:C;21239042:A;21239077:A;21239113:A;21239145:C;21239158:C;" ] }, "score": 32 } ], "haplotypes": [ { "name": "*1", "sequences": [ "21172734:C;21172776:G;21172782:T;21174595:T;21176804:A;21176868:A;21176871:G;21176879:C;21176883:A;21176898:G;21178612:A;21178615:T;21178957:A;21196951:A;21196975:C;21196976:G;21200544:C;21200595:T;21202553:T;21202555:C;21202649:A;21202664:G;21205921:A;21205999:G;21206031:A;21222355:C;21239042:A;21239077:A;21239113:A;21239145:C;21239158:C;" ] }, { "name": "*5", "sequences": [ "21172734:C;21172776:G;21172782:T;21174595:T;21176804:A;21176868:A;21176871:G;21176879:C;21176883:A;21176898:G;21178612:A;21178615:C;21178957:A;21196951:A;21196975:C;21196976:G;21200544:C;21200595:T;21202553:T;21202555:C;21202649:A;21202664:G;21205921:A;21205999:G;21206031:A;21222355:C;21239042:A;21239077:A;21239113:A;21239145:C;21239158:C;" ] } ], "phased": false, "variants": [ { "position": 21172734, "rsid": "rs139257324", "vcfCall": "C|C" }, { "position": 21172776, "rsid": "rs373327528", "vcfCall": "G|G" }, { "position": 21172782, "rsid": "rs56101265", "vcfCall": "T|T" }, { "position": 21174595, "rsid": "rs56061388", "vcfCall": "T|T" }, { "position": 21176804, "rsid": "rs2306283", "vcfCall": "A|A" }, { "position": 21176868, "rsid": "rs2306282", "vcfCall": "A|A" }, { "position": 21176871, "rsid": null, "vcfCall": "G|G" }, { "position": 21176879, "rsid": "rs11045819", "vcfCall": "C|C" }, { "position": 21176883, "rsid": "rs72559745", "vcfCall": "A|A" }, { "position": 21176898, "rsid": "rs77271279", "vcfCall": "G|G" }, { "position": 21178612, "rsid": "rs141467543", "vcfCall": "A|A" }, { "position": 21178615, "rsid": "rs4149056", "vcfCall": "T/C" }, { "position": 21178957, "rsid": "rs79135870", "vcfCall": "A|A" }, { "position": 21196951, "rsid": "rs11045852", "vcfCall": "A|A" }, { "position": 21196975, "rsid": "rs183501729", "vcfCall": "C|C" }, { "position": 21196976, "rsid": "rs11045853", "vcfCall": "G|G" }, { "position": 21200544, "rsid": "rs72559747", "vcfCall": "C|C" }, { "position": 21200595, "rsid": "rs55901008", "vcfCall": "T|T" }, { "position": 21202553, "rsid": "rs1228465562", "vcfCall": "T|T" }, { "position": 21202555, "rsid": "rs59113707", "vcfCall": "C|C" }, { "position": 21202649, "rsid": "rs56387224", "vcfCall": "A|A" }, { "position": 21202664, "rsid": "rs142965323", "vcfCall": "G|G" }, { "position": 21205921, "rsid": "rs72559748", "vcfCall": "A|A" }, { "position": 21205999, "rsid": "rs59502379", "vcfCall": "G|G" }, { "position": 21206031, "rsid": "rs74064213", "vcfCall": "A|A" }, { "position": 21222355, "rsid": "rs71581941", "vcfCall": "C|C" }, { "position": 21239042, "rsid": "rs34671512", "vcfCall": "A|A" }, { "position": 21239077, "rsid": "rs56199088", "vcfCall": "A|A" }, { "position": 21239113, "rsid": "rs55737008", "vcfCall": "A|A" }, { "position": 21239145, "rsid": "rs200995543", "vcfCall": "C|C" }, { "position": 21239158, "rsid": "rs140790673", "vcfCall": "C|C" } ], "variantsOfInterest": [], "matchData": { "missingPositions": [], "mismatchedAlleles": [] }, "uncallableHaplotypes": [], "ignoredHaplotypes": [] }, { "alleleDefinitionVersion": "05/05/22", "chromosome": "chr6", "gene": "TPMT", "diplotypes": [ { "name": "*1/*1", "haplotype1": { "name": "*1", "sequences": [ "18130687:T;18130694:T;18130725:A;18130729:C;18130758:A;18130762:C;18130772:A;18130781:C;18132136:A;18132147:A;18132163:C;18133845:T;18133847:C;18133870:A;18133884:G;18133887:T;18133890:C;18138969:C;18138970:G;18138997:C;18139027:C;18139689:C;18139710:G;18143597:T;18143606:T;18143613:C;18143622:C;18143643:A;18143700:C;18143718:G;18143724:C;18143728:C;18147838:G;18147845:C;18147851:G;18147856:A;18147910:A;18149004:G;18149022:C;18149032:C;18149045:T;18149126:A;18149127:T;" ] }, "haplotype2": { "name": "*1", "sequences": [ "18130687:T;18130694:T;18130725:A;18130729:C;18130758:A;18130762:C;18130772:A;18130781:C;18132136:A;18132147:A;18132163:C;18133845:T;18133847:C;18133870:A;18133884:G;18133887:T;18133890:C;18138969:C;18138970:G;18138997:C;18139027:C;18139689:C;18139710:G;18143597:T;18143606:T;18143613:C;18143622:C;18143643:A;18143700:C;18143718:G;18143724:C;18143728:C;18147838:G;18147845:C;18147851:G;18147856:A;18147910:A;18149004:G;18149022:C;18149032:C;18149045:T;18149126:A;18149127:T;" ] }, "score": 86 } ], "haplotypes": [ { "name": "*1", "sequences": [ "18130687:T;18130694:T;18130725:A;18130729:C;18130758:A;18130762:C;18130772:A;18130781:C;18132136:A;18132147:A;18132163:C;18133845:T;18133847:C;18133870:A;18133884:G;18133887:T;18133890:C;18138969:C;18138970:G;18138997:C;18139027:C;18139689:C;18139710:G;18143597:T;18143606:T;18143613:C;18143622:C;18143643:A;18143700:C;18143718:G;18143724:C;18143728:C;18147838:G;18147845:C;18147851:G;18147856:A;18147910:A;18149004:G;18149022:C;18149032:C;18149045:T;18149126:A;18149127:T;" ] } ], "phased": true, "variants": [ { "position": 18130687, "rsid": "rs1142345", "vcfCall": "T|T" }, { "position": 18130694, "rsid": "rs150900439", "vcfCall": "T|T" }, { "position": 18130725, "rsid": "rs72552736", "vcfCall": "A|A" }, { "position": 18130729, "rsid": "rs139392616", "vcfCall": "C|C" }, { "position": 18130758, "rsid": "rs398122996", "vcfCall": "A|A" }, { "position": 18130762, "rsid": "rs56161402", "vcfCall": "C|C" }, { "position": 18130772, "rsid": "rs377085266", "vcfCall": "A|A" }, { "position": 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